Point Mutation

Preferred Label : Point Mutation;

NCIt definition : A small-scale mutation in which a single nucleotide is exchanged for another. Mutagenic chemicals and mistakes in DNA replication may result in point mutations.;

Alternative definition : NCI-GLOSS: An alteration in a DNA sequence caused by the substitution of a single nucleotide for another nucleotide.;

Codes from synonyms : CDR0000460204;

Details

Origin ID

C62200;

UMLS CUI

C0162735;

Automatic exact mappings (from CISMeF team)
- Point mutation (finding) [SNOMED CT concept]
Currated CISMeF NLP mapping
- point mutation [MeSH Descriptor]
- point mutation [MeSH concept]
Semantic type(s)
- Cell or Molecular Dysfunction [UMLS semantic type]
UMLS correspondences (same concept)
- Point mutation (finding) [SNOMED CT concept]
- point mutation [MeSH concept]
- point mutation [MeSH Descriptor]

Keyword's position in hierarchy(ies) :

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